Mutagenetix > Incidental Mutations

Incidental Mutation 'R7645:Cpt2'

590472

Institutional Source

Beutler Lab

Gene Symbol

Cpt2

Ensembl Gene

ENSMUSG00000028607

Gene Name

carnitine palmitoyltransferase 2

Synonyms

CPT II, CPTII

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107903981-107923610 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107906974 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 531 (M531K)

Ref Sequence

ENSEMBL: ENSMUSP00000030345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030345] [ENSMUST00000106719] [ENSMUST00000106720] [ENSMUST00000131644]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030345
AA Change: M531K

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030345
Gene: ENSMUSG00000028607
AA Change: M531K

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	49	648	1.4e-190	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106719

SMART Domains

Protein: ENSMUSP00000102330
Gene: ENSMUSG00000028607

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	48	265	1.9e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106720

SMART Domains

Protein: ENSMUSP00000102331
Gene: ENSMUSG00000028607

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	48	113	2.1e-21	PFAM
Pfam:Carn_acyltransf	101	214	1.9e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131644

SMART Domains

Protein: ENSMUSP00000114362
Gene: ENSMUSG00000028607

Domain	Start	End	E-Value	Type
PDB:4EYW\|B	27	88	2e-28	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,256,255	C375S	probably benign	Het
Adgrg3	A	G	8: 95,034,764		probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Atg2b	T	C	12: 105,623,430	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,587,963	N290K	probably benign	Het
Ccdc39	T	C	3: 33,825,169		probably null	Het
Cnot10	T	C	9: 114,613,637	S501G	probably benign	Het
Col6a6	A	G	9: 105,767,198		probably null	Het
Coq2	A	C	5: 100,660,250	C228W	probably damaging	Het
Dennd1a	A	G	2: 38,021,363	L204P	probably damaging	Het
Dirc2	T	A	16: 35,734,068		probably null	Het
Dock9	C	T	14: 121,597,663	V1305M	probably benign	Het
Dusp16	A	G	6: 134,725,925	I201T	probably damaging	Het
Esco2	T	C	14: 65,827,181	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037	S158P	probably damaging	Het
Fut10	A	G	8: 31,236,204	H329R	possibly damaging	Het
Gm10436	T	C	12: 88,176,258	T392A	probably damaging	Het
Gpr3	A	G	4: 133,211,329	W11R	probably damaging	Het
H2-M3	T	A	17: 37,270,729	I94N	probably damaging	Het
Krt7	T	C	15: 101,412,643	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,238,546		probably benign	Het
Ms4a6b	A	T	19: 11,523,940	T105S	probably damaging	Het
Muc6	T	C	7: 141,648,658	H592R	probably benign	Het
Ncam1	T	C	9: 49,565,003	E262G	probably benign	Het
Olfr1265	T	A	2: 90,037,747	I276K	possibly damaging	Het
Olfr1462	T	C	19: 13,191,573	V302A	probably benign	Het
Plxnb1	T	A	9: 109,114,412	S1908T	probably damaging	Het
Polg2	A	T	11: 106,775,593	M242K	probably benign	Het
Polr3g	T	C	13: 81,694,444	T151A	unknown	Het
Psmb8	T	C	17: 34,200,212	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,681,391	A176V	possibly damaging	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rufy3	A	G	5: 88,640,617	T506A	probably benign	Het
Samd11	T	C	4: 156,255,183		probably benign	Het
Slc12a2	T	C	18: 57,896,378	F279L	possibly damaging	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,295		probably benign	Het
Srgn	C	T	10: 62,494,978	W116*	probably null	Het
Svil	A	G	18: 5,099,663	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,235,541	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,242,553	K490M	probably damaging	Het
Tcte1	A	G	17: 45,534,989	N173S	probably benign	Het
Tmco6	C	T	18: 36,735,393	R31W	probably damaging	Het
Ttn	C	A	2: 76,899,681	A5155S	unknown	Het
Tyro3	T	C	2: 119,816,906	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,867,576	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,780,602	L554P	probably damaging	Het
Zfp352	C	T	4: 90,224,777	P385S	probably benign	Het

Other mutations in Cpt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02655:Cpt2	APN	4	107907427	missense	probably damaging	1.00
IGL02755:Cpt2	APN	4	107907775	missense	probably damaging	1.00
IGL02803:Cpt2	APN	4	107907386	missense	probably benign
IGL03066:Cpt2	APN	4	107907986	missense	probably benign	0.01
IGL03180:Cpt2	APN	4	107906960	missense	probably damaging	1.00
R0037:Cpt2	UTSW	4	107907974	missense	probably damaging	0.99
R0046:Cpt2	UTSW	4	107904362	splice site	probably null
R0046:Cpt2	UTSW	4	107904362	splice site	probably null
R0598:Cpt2	UTSW	4	107906938	missense	probably damaging	1.00
R1844:Cpt2	UTSW	4	107904255	missense	possibly damaging	0.68
R2432:Cpt2	UTSW	4	107904526	nonsense	probably null
R6326:Cpt2	UTSW	4	107914316	missense	probably benign	0.00
R6682:Cpt2	UTSW	4	107904430	missense	probably damaging	1.00
R6803:Cpt2	UTSW	4	107912664	missense	probably damaging	1.00
R7463:Cpt2	UTSW	4	107908157	missense	probably damaging	1.00
R7491:Cpt2	UTSW	4	107907142	missense	probably damaging	1.00
R7572:Cpt2	UTSW	4	107907548	missense	probably damaging	1.00
R8513:Cpt2	UTSW	4	107906926	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATTTGGGAGTTGGCAAG -3'
(R):5'- AAGAAGCTGAGCCCTGATGC -3'

Sequencing Primer
(F):5'- TTGGCAAGTAGATTAAACCTAGTGG -3'
(R):5'- TGAGCCCTGATGCAGTGG -3'

Posted On

2019-10-24